Pediatric Otolaryngologist, Boston Children’s Hospital
Assistant Professor of Otolaryngology, Harvard Medical School (United States)

Dr. Eliot Shearer is a pediatric otolaryngologist and member of the Cochlear Implant Program at Boston Children’s Hospital (BCH), and is the Principal Investigator of the Translational Hearing Genomics Lab. His laboratory studies the genetics of hearing loss and other ear, nose, and throat disorders. He is internationally recognized for his work in developing a new genetic testing platform for the diagnosis of hearing loss and has written many research articles and several book chapters on the subject.

Hearing Loss in the 21st Century and Beyond: A New Era of Precision Diagnosis and Treatment Using Genomics

Our understanding of hearing loss has changed dramatically since the completion of the human genome project and the application of genomic technologies to the study of hearing. For most children with hearing loss, we are now able to establish a diagnosis for hearing loss. Because hearing loss is itself just a symptom of an underlying difference in the auditory system, having a diagnosis provides valuable information to the patient and the family. Information on prognosis for hearing, recurrence risk, and evaluation for syndromic causes of hearing loss are all provided with a diagnosis. The individual with hearing loss and their family are empowered once they are provided with the underlying cause of their hearing loss. Importantly, given the vastly expanded treatments available, a diagnosis is also key to identifying the best treatment option for hearing loss. Gene therapies are also enabled by improved hearing loss diagnostics. In this lecture, we will discuss genetic testing for hearing loss in the context of precision medicine approaches to hearing loss. We will also cover exciting upcoming technologies that will further advance the field of hearing loss genomics including genetic newborn hearing screening.

By the end of this session, learners will be able to:

1. 1. Describe the importance of genetic evaluation in the work up of children with hearing loss.
2. 2. Give examples of some common syndromic forms of hearing loss.
3. 3. Compare molecular and genetic therapies for hearing loss.